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Cystic fibrosis (CF), also known as mucoviscidosis, is the most common autosomal recessive genetic disease in the Caucasian population, with an estimated frequency of 1:2000-3000 live births. CF results from the mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene localized in the long arm of chromosome 7. The product of CFTR gene expression is CFTR protein, an adenosine triphosphate (ATP)-binding cassette (ABC) transporter that regulates the transport of chloride ions (Cl-) across the apical cell membrane. Primary manifestations of CF include chronic lung and pancreas function impairment secondary to the production of thick, sticky mucus resulting from dehydrated secretions. It is well known that CF can cause both anterior and posterior ocular abnormalities. Conjunctival and corneal xerosis and dry eye disease symptoms are the most characteristic manifestations in the anterior segment. In contrast, the most typical anatomical and functional changes relating to the posterior segment of the eye include defects in the retinal nerve fiber layer (RNFL), vascular abnormalities, and visual disturbances, such as reduced contrast sensitivity and abnormal dark adaptation. However, the complete background of ophthalmic manifestations in the course of CF has yet to be discovered. This review summarizes the current knowledge regarding ocular changes in cystic fibrosis.
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Regulador de Condutância Transmembrana em Fibrose Cística , Fibrose Cística , Humanos , Fibrose Cística/metabolismo , Fibrose Cística/genética , Fibrose Cística/patologia , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Regulador de Condutância Transmembrana em Fibrose Cística/metabolismo , Oftalmopatias/etiologia , Oftalmopatias/metabolismo , Oftalmopatias/patologia , Mutação , AnimaisRESUMO
Methanol-induced optic neuropathy (Me-ION) is a serious condition that may result in long-term or irreversible visual impairment or even blindness secondary to damage and loss of function of the optic nerve and retina. Me-ION shows a tendency to occur as mass poisonings around the world with a clear predilection for poor societies in developing countries. The main mechanism underlying the molecular basis of Me-ION is the inhibition of the mitochondrial oxidative phosphorylation process through the binding of the toxic metabolite of methanol-formic acid-with the key enzyme of this process-cytochrome c oxidase. However, other mechanisms, including damage to the eye tissues by oxidative stress causing the intensification of the oxidative peroxidation process with the formation of cytotoxic compounds, as well as an increase in the synthesis of pro-inflammatory cytokines and influence on the expression of key proteins responsible for maintaining cell homeostasis, also play an important role in the pathogenesis of Me-ION. Histopathological changes in the eye tissues are mainly manifested as the degeneration of axons and glial cells of the optic nerve, often with accompanying damage of the retina that may involve all its layers. Despite the development of therapeutic approaches, persistent visual sequelae are seen in 30-40% of survivors. Thus, Me-ION continues to be an important problem for healthcare systems worldwide.
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Metanol/intoxicação , Doenças do Nervo Óptico/induzido quimicamente , Nervo Óptico/efeitos dos fármacos , Animais , Axônios/efeitos dos fármacos , Axônios/patologia , Formiatos/toxicidade , Humanos , Metanol/metabolismo , Mitocôndrias/efeitos dos fármacos , Mitocôndrias/patologia , Nervo Óptico/patologia , Doenças do Nervo Óptico/fisiopatologia , Estresse Oxidativo/efeitos dos fármacos , Retina/efeitos dos fármacos , Retina/patologiaRESUMO
Diabetic macular edema (DME) and neovascular age-related macular degeneration (nAMD) are common retinal vascular diseases responsible for most blindness in the working-age and older population in developed countries. Currently, anti-VEGF agents that block VEGF family ligands, including ranibizumab, bevacizumab (off-label use), brolucizumab, and aflibercept, are the first-line treatment for nAMD and DME. However, due to the complex pathophysiological background of nAMD and DME, non-response, resistance during anti-VEGF therapy, and relapses of the disease are still observed. Moreover, frequent injections are a psychological and economic burden for patients, leading to inadequate adhesion to therapy and a higher risk of complications. Therefore, therapeutic methods are strongly needed to develop and improve, allowing for more satisfactory disease management and lower treatment burden. Currently, the Ang/Tie-2 pathway is a promising therapeutic target for retinal vascular diseases. Faricimab is the first bispecific monoclonal antibody for intravitreal use that can neutralize VEGF and Ang-2. Due to the prolonged activity, faricimab allows extending the interval between successive injections up to three or four months in nAMD and DME patients, which can be a significant benefit for patients and an alternative to implanted drug delivery systems.
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Diabetes Mellitus , Retinopatia Diabética , Degeneração Macular , Edema Macular , Doenças Retinianas , Inibidores da Angiogênese/uso terapêutico , Anticorpos Monoclonais/uso terapêutico , Diabetes Mellitus/tratamento farmacológico , Retinopatia Diabética/tratamento farmacológico , Humanos , Injeções Intravítreas , Degeneração Macular/tratamento farmacológico , Edema Macular/tratamento farmacológico , Edema Macular/etiologia , Ranibizumab/uso terapêutico , Receptores de Fatores de Crescimento do Endotélio Vascular/uso terapêutico , Proteínas Recombinantes de Fusão/uso terapêutico , Doenças Retinianas/tratamento farmacológico , Fator A de Crescimento do Endotélio Vascular/uso terapêuticoRESUMO
The main aim of this study was to characterize the retinal nerve fiber layer (RNFL) and ganglion cell layer (GCL) thickness in the macular area eyes affected by wet age-related macular degeneration (wAMD) treated with anti-VEGF and compare the results with the control of fellow untreated eyes affected by early stages of dry age-related macular degeneration (dAMD). Additionally, we aimed to estimate if the number of injections received and other factors, including age, best-corrected visual acuity (BCVA), or sex, may affect the differences in the obtained measurements of retinal nerve fiber layer thickness. We prospectively included 106 eyes of 53 patients with unilateral wet age-related macular degeneration. The fellow eyes with non-advanced dry age-related macular degeneration served as a control group in a cross-sectional study. RNFL and GCL in the macular region were evaluated using optical coherence tomography, with outcomes expressed as differences in the thickness of both examined layers between the study and control groups. We found thinner GCL in wAMD vs. dAMD (p < 0.001). In turn, the RNFL layer did not show any statistically significant differences between the two groups (p = 0.409). Similarly, we found a statistically significant correlation between the number of injections and the layer thickness (p = 0.106). Among all assessed parameters, age over 73 was the only factor significantly affecting the thickness of the retinal nerve fiber layer in both groups (p = 0.042). The morphology of the inner layers of the retina in dry and wet AMD seems to differ, possibly due to differences in the etiopathogenesis of these two forms of the disease. In our study, the retinal ganglion cell layer was thinner in the treated vs. fellow eye (with dry AMD), while the nerve fiber layer was not significantly different between the groups. The number of anti-VEGF injections had no effect on the thickness of the macular nerve fiber layer.
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Atrofia Geográfica , Degeneração Macular Exsudativa , Humanos , Inibidores da Angiogênese/uso terapêutico , Estudos Transversais , Retina , Células Ganglionares da Retina/patologia , Degeneração Macular Exsudativa/tratamento farmacológico , Degeneração Macular Exsudativa/patologia , Tomografia de Coerência Óptica/métodos , Atrofia Geográfica/patologiaRESUMO
Purpose: The aim of this study was to identify the molecular genetic basis of cone-rod dystrophy in 18 unrelated families of Polish origin. Cone-rod dystrophy is one of the inherited retinal dystrophies, which constitute a highly heterogeneous group of disorders characterized by progressive dysfunction of photoreceptors and retinal pigment epithelium (RPE) cells. Methods: The study group was composed of four groups of patients representing different Mendelian inheritance of the disease: autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XL), and autosomal recessive or X-linked recessive (AR/XL). The combined molecular strategy included Sanger sequencing of the RPGR-ORF15 gene (three families with XL and three families with the AR/XL mode of inheritance), mutation-specific microarray analysis of the ABCA4 gene (five families with the AR mode of inheritance and two families with the AR/XL mode of inheritance), targeted next-generation sequencing (NGS) of inherited retinal disease-associated (IRD) genes (seven families with the AD mode of inheritance and five families with the AR mode of inheritance), and whole exome sequencing, performed in select families who had been mutation-negative in the analysis with the targeted NGS panel (one family with the AD mode of inheritance, one family with the AR mode of inheritance, and two families with the AR/XL mode of inheritance). Results: Based on this combined strategy, we managed to identify potentially causative variants in seven out of 18 families with CRD. Five of these variants are novel: c.3142_3143dupAA, p.(Glu1049Argfs*41) in the RPGR-ORF15 gene, two variants: c.1612delT, p.(Trp538Glyfs*15) and c.2389dupG, p.(Ile798Hisfs*20) in the PROM1 gene in one family, c.592A>C, p.(Ser198Arg) in the PRPH2 gene and the variant c.1691A>G, p.(Asp564Gly) in the ATF6 gene that we have already reported to be pathogenic. NGS on the IRD panel allowed the molecular basis of CRD to be identified in four out of 14 families with a total detection rate of 38%. WES allowed identification of the molecular genetic basis of CRD in one family. Conclusions: This is the first report on the spectrum of disease genes and pathogenic variants causing CRD in the Polish population. The study presents five novel variants identified in four genes and therefore, broadens the spectrum of probable pathogenic variants associated with CRD.
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Antígeno AC133/genética , Transportadores de Cassetes de Ligação de ATP/genética , Fator 6 Ativador da Transcrição/genética , Transtornos Cromossômicos/genética , Distrofias de Cones e Bastonetes/genética , Proteínas do Olho/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Periferinas/genética , Adolescente , Adulto , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/patologia , Estudos de Coortes , Distrofias de Cones e Bastonetes/diagnóstico , Distrofias de Cones e Bastonetes/patologia , Feminino , Expressão Gênica , Genes Dominantes , Genes Recessivos , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Polônia , Polimorfismo Genético , Epitélio Pigmentado da Retina/metabolismo , Epitélio Pigmentado da Retina/patologia , Análise de Sequência de DNARESUMO
PURPOSE: To collect comprehensive data on choroidal and ciliary body melanoma (CCBM) in children and to validate hypotheses regarding pediatric CCBM: children younger than 18 years, males, and those without ciliary body involvement (CBI) have more favorable survival prognosis than young adults 18 to 24 years of age, females, and those with CBI. DESIGN: Retrospective, multicenter observational study. PARTICIPANTS: Two hundred ninety-nine patients from 24 ocular oncology centers, of whom 114 were children (median age, 15.1 years; range, 2.7-17.9 years) and 185 were young adults. METHODS: Data were entered through a secure website and were reviewed centrally. Survival was analyzed using Kaplan-Meier analysis and Cox proportional hazards regression. MAIN OUTCOME MEASURES: Proportion of females, tumor-node-metastasis (TNM) stage, cell type, and melanoma-related mortality. RESULTS: Cumulative frequency of having CCBM diagnosed increased steadily by 0.8% per year of age between 5 and 10 years of age and, after a 6-year transition period, by 8.8% per year from age 17 years onward. Of children and young adults, 57% and 63% were female, respectively, which exceeded the expected 51% among young adults. Cell type, known for 35% of tumors, and TNM stage (I in 22% and 21%, II in 49% and 52%, III in 30% and 28%, respectively) were comparable for children and young adults. Melanoma-related survival was 97% and 90% at 5 years and 92% and 80% at 10 years for children compared with young adults, respectively (P = 0.013). Males tended to have a more favorable survival than females among children (100% vs. 85% at 10 years; P = 0.058). Increasing TNM stage was associated with poorer survival (stages I, II, and III: 100% vs. 86% vs. 76%, respectively; P = 0.0011). By multivariate analysis, being a young adult (adjusted hazard rate [HR], 2.57), a higher TNM stage (HR, 2.88 and 8.38 for stages II and III, respectively), and female gender (HR, 2.38) independently predicted less favorable survival. Ciliary body involvement and cell type were not associated with survival. CONCLUSIONS: This study confirms that children with CCBM have a more favorable survival than young adults 18 to 25 years of age, adjusting for TNM stage and gender. The association between gender and survival varies between age groups.
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Neoplasias da Coroide/epidemiologia , Corpo Ciliar/patologia , Melanoma/epidemiologia , Neoplasias Uveais/epidemiologia , Adolescente , Criança , Pré-Escolar , Neoplasias da Coroide/mortalidade , Neoplasias da Coroide/terapia , Europa (Continente)/epidemiologia , Enucleação Ocular , Feminino , Inquéritos Epidemiológicos , Humanos , Masculino , Oncologia/organização & administração , Melanoma/mortalidade , Melanoma/terapia , Recidiva Local de Neoplasia/diagnóstico , Procedimentos Cirúrgicos Oftalmológicos , Oftalmologia/organização & administração , Fotoquimioterapia , Radioterapia , Estudos Retrospectivos , Taxa de Sobrevida , Neoplasias Uveais/mortalidade , Neoplasias Uveais/terapia , Adulto JovemRESUMO
The aim of the study is to report a case of limbal dermoid associated with infestation of Demodex species (Demodex spp.). A 27-year-old man presented with ocular discomfort and a pink conjunctival lesion in his left eye. The lesion had been present since birth and it occassionally grew eyelashes. The tumour was located in an inferior temporal quadrant, involving approximately 1/6 of the limbal surface area. High frequency ultrasound revealed deep corneoscleral inifiltration, so a subtotal resection was performed. Histological evaluation revealed the presence of Demodex spp. in an abnormal sebaceous gland located within the tumour. Limbal dermoid might be associated with Demodex spp. infestation, if abnormal sebaceous glands are formed inside the lesion.
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Córnea/cirurgia , Cisto Dermoide/complicações , Neoplasias Oculares/complicações , Infestações por Ácaros/complicações , Adulto , Animais , Cisto Dermoide/diagnóstico , Cisto Dermoide/cirurgia , Neoplasias Oculares/diagnóstico , Neoplasias Oculares/cirurgia , Humanos , Masculino , Infestações por Ácaros/diagnóstico , Infestações por Ácaros/cirurgiaRESUMO
INTRODUCTION: One of the most important symptoms of Sjögren syndrome is xerostomia. The oral cavity deprived of saliva and its natural lubricative, protective and antibacterial properties is prone to a number of unfavourable consequences. AIM: To present the most important lesions on the oral mucosa in primary and secondary Sjögren syndrome and in dry mouth syndrome. MATERIAL AND METHODS: The study group comprised 55 patients including 52 women and 3 men aged 20-72 years (average: 28.25 years). RESULTS: Basing on the accepted criteria, primary Sjögren syndrome was diagnosed in 22 (40%) patients, secondary Sjögren syndrome in 18 (32.7%) patients, and dry mouth syndrome in 15 (27.27%) patients. The physical examination and the examination of the mouth were performed and history was elicited from every patient. CONCLUSIONS: The most common pathologies appearing on the oral mucosa in primary and secondary Sjögren syndrome are angular cheilitis, cheilitis, increased lip dryness as well as non-specific ulcerations, aphthae and aphthoid conditions.
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BACKGROUND: Although elevated intraocular pressure is a major risk factor for the development of glaucoma, there is increasing evidence that the immune system may be involved in the development of normal-tension glaucoma (NTG). The aim of this study was to determine if NTG is associated with elevated levels of antibodies against human heat shock protein (HSP) 60. MATERIAL AND METHODS: The study was conducted in 139 subjects (35 subjects with NTG [Group 1], 34 subjects with primary open-angle glaucoma /POAG/ [Group 2], 24 subjects with autoimmune rheumatic diseases [Group 3], and 36 healthy controls [Group 4]). All subjects had complete ophthalmologic examination (visual acuity, slit-lamp examination, tonometry, gonioscopy; visual-field examination, and optical coherence tomography /OCT/ of the optic nerve head and the macula). Blood samples were collected for the measurements of serum levels of antibodies against human HSP60. RESULTS: The subjects with rheumatic diseases had the highest median serum level of antibodies against HSP60 - 20.49 ng/mL. The values in the subjects with NTG, POAG, and in controls were 18.79 ng/mL, 18.61 ng/mL and 17.61 ng/mL, respectively (p=0.96). CONCLUSIONS: This study does not confirm the hypothesis that normal-tension glaucoma is associated with elevated blood levels of antibodies against human heat shock protein (HSP) 60.
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Anticorpos/sangue , Chaperonina 60/imunologia , Glaucoma/sangue , Glaucoma/imunologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Demografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , PolôniaRESUMO
UNLABELLED: Oguchi disease type 2 is a rare autosomal recessive form of congenital stationary night blindness. A typical feature of this disorder is a golden-brown discoloration of the fundus called Mizuo-Nakamura phenomenon, which disappears after prolonged dark adaptation and reappears shortly after the onset of light. MATERIAL AND METHODS: A 13-year-old boy exhibiting the clinical features of congenital stationary night blindness, was examined. Ophthalmic examination including slit-lamp biomicroscopy, perimetry and funduscopy was performed. Additionally, the full-field electroretinography and molecular testing for congenital stationary night blindness using the Single Nucleotide Polymorphism microarray technique were performed. RESULTS: The ophthalmic examination showed normal visual acuity, normal anterior segment of both eyes and full visual fields. The eye fundus examination showed a typical golden-brownish discoloration of the peripheral retina (disappearing after long dark adaptation) with no pigment deposits. Full-field electroretinography showed reduced amplitudes of both waves under scotopic conditions, while under photopic conditions both shape and parameters of the record were within the normal limits. The Single Nucleotide Polymorphism microarray revealed a homozygous deletion: c.1607161 OdelCGGA in GRK1 gene. This frameshift mutation introduces a stop codon (p.Asp537Valfs*542) and results in deletion of terminal 22 amino acid residues of retinal kinase protein. CONCLUSIONS: This is the first molecular evidence for GRK1 gene mutation in a Polish patient with Oguchi disease type 2. The identification of the c.1607_1610delCGGA mutation in a patient with Oguchi disease confirms the pathogenicity of this variant.
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Adaptação à Escuridão/genética , Receptor Quinase 1 Acoplada a Proteína G/genética , Mutação de Sentido Incorreto , Cegueira Noturna/genética , Adolescente , Análise Mutacional de DNA , Eletrorretinografia , Humanos , Masculino , Cegueira Noturna/diagnóstico , Reação em Cadeia da Polimerase , Acuidade Visual , Campos VisuaisRESUMO
Background: To evaluate functional and anatomical outcomesof cataract surgery in neovascular age-related macular neovascularization (nAMD) eyes receiving anti-vascular endothelial growth factor (anti-VEGF) intravitreal injections in modified pro re nata (PRN) regimen. Materials and Methods: Sixty eyes of 60 nAMD patients, including 41 women (68.3%) and 19 men (31.7%) in an average age of 77.35 ± 6.41 years, under treatment with intravitreal aflibercept injections in modified PRN regimen with no signs of macular neovascularization (MNV) activity during two consecutive visits were included in this prospective, observational study. Best-corrected visual acuity (BCVA), central retinal thickness (CRT), as well as the number of anti-VEGF injections were monitored six months before and after phacoemulsification with intraocular lens (IOL) implantation. Further, the change of the abovementioned parameters was assessed during the six-month follow-up period for CRT and the number of injections, while the BCVA was monitored for 54 months. Results: BCVA measured on the first day after surgery (0.17 ± 0.19 logMAR) as well as in the six-month post-surgery (0.13 ± 0.16 logMAR) significantly improved compared to preop values (0.42 ± 0.20 logMAR). BCVA remains stable during the observational period. We found that both differences were statistically significant (p < 0.01). The mean CRT and the mean number of injections did not differ between the six-month pre- and post-surgical periods. Conclusions: We showed the beneficial effect of phacoemulsification in nAMD patients treated with anti-VEGF agents on visual outcomes in the short and long term. Cataract surgery in nAMD eyes treated with anti-VEGF injections does not increase the frequency of anti-VEGF injections and does not cause deterioration of the macular status.
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Leber hereditary optic neuropathy (LHON) is a mitochondrial disease leading to rapid and severe bilateral vision loss. Idebenone has been shown to be effective in stabilizing and restoring vision in patients treated within 1 year of onset of vision loss. The open-label, international, multicenter, natural history-controlled LEROS study (ClinicalTrials.gov NCT02774005) assesses the efficacy and safety of idebenone treatment (900 mg/day) in patients with LHON up to 5 years after symptom onset (N = 199) and over a treatment period of 24 months, compared to an external natural history control cohort (N = 372), matched by time since symptom onset. LEROS meets its primary endpoint and confirms the long-term efficacy of idebenone in the subacute/dynamic and chronic phases; the treatment effect varies depending on disease phase and the causative mtDNA mutation. The findings of the LEROS study will help guide the clinical management of patients with LHON.
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Atrofia Óptica Hereditária de Leber , Ubiquinona/análogos & derivados , Humanos , Atrofia Óptica Hereditária de Leber/tratamento farmacológico , Atrofia Óptica Hereditária de Leber/genética , Atrofia Óptica Hereditária de Leber/diagnóstico , Antioxidantes/uso terapêutico , Ubiquinona/uso terapêutico , Ubiquinona/genética , MutaçãoRESUMO
BACKGROUND: Poststreptococcal syndrome (PSS) can be a consequence of nonpurulent primary infection with group A streptococci (GAS). Postreptococcal uveitis is a well recognized entity with quite a few descriptions in the literature, but so far no conjunctival involvement has been reported.The aim of the study is to present a rare case of postreptococcal conjunctival lesions mimicking a lymphoma. CASE PRESENTATION: 19-years-old Caucasian female presented with pink, nodular infiltrates in the right conjunctiva that occurred a few months after upper respiratory tract infection and tonsillectomy. Histopathological examination of collected lesion samples revealed inflammatory reaction with lymphocytes proliferation and failed to rule out a myeloma. Complementary flow-cytometry did not show monoclonal proliferation of lymphocytes B. During follow-up we observed the complete regression of conjunctival lesions after the benzyl penicillin treatment prescribed by ENT specialist due to elevated plasma ASO levels. Therefore, we suppose that those lesions must have represented a part of poststreptococcal syndrome. CONCLUSIONS: To conclude, this is, to the best of our knowledge, the first report of conjunctival involvement in the course of PSS related to group A streptococci.
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Neoplasias da Túnica Conjuntiva/diagnóstico , Conjuntivite/diagnóstico , Linfoma/diagnóstico , Infecções Respiratórias/complicações , Infecções Estreptocócicas/complicações , Neoplasias da Túnica Conjuntiva/patologia , Conjuntivite/patologia , Diagnóstico Diferencial , Feminino , Histocitoquímica , Humanos , Linfoma/patologia , Infecções Respiratórias/microbiologia , Infecções Estreptocócicas/microbiologia , População Branca , Adulto JovemRESUMO
INTRODUCTION: Metastatic tumors are the most common intraocular malignancies in adults. Anterior segment metastases account for about 7.2-14.1% of all intraocular metastatic tumors with those to the iris representing 3.6-7.8% of the cases. Breast and lung are the most frequent primary sites of metastasizing cancer. The aim of this study is to present the case of a 43-year-old patient with a rare small-cell lung carcinoma metastasis to the iris. CASE REPORT: A patient with small-cell lung carcinoma and metastases in the brain who had been treated with chemo- and radiotherapy attended an outpatient clinic because of redness of her left eye. Based on the ophthalmological examination, a diagnosis of numerous metastatic tumors to the iris was made and the patient was referred for re-chemotherapy. Complete regression of the iris lesions was observed after 5 months but unfortunately two months later the patient died, due to progression of her systemic disease. DISCUSSION: Among lung cancers, adenocarcinomas are much more likely to produce distant metastases to the iris than small-cell carcinomas [4]. More than 50% of patients with small-cell lung carcinoma have metastases in the brain. The survival rate in cases of lung cancer with eye involvement is poor and approximates to 7 months. However, since there is a strong probability of angle involvement and subsequent secondary glaucoma, the early onset of treatment can improve the patient's quality of life during the terminal phase of the disease.
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AIM: The aim of our research was to describe the effect of an off-label intravitreal ranibizumab injection for treatment of unilateral extrafoveal choroidal neovascularization a with bilateral optic nerve drusen. MATERIAL AND METHODS: 13-year-old girl presented with decreased visual acuity of her left eye and optic nerve drusen confirmed by B-scan ultrasound examination in both eyes. Fluorescein angiography and optical coherence tomography revealed the presence of choroidal neovascularization in the left eye. The patient was treated with a single injection of ranibizumab and monitored by clinical examination, optical coherence tomography and fluorescein angiography. RESULTS: Choroidal neovascularization was successfully treated and the best corrected visual acuity (Snellen) fully recovered from 20/50 to 20/20 over a period of 2 months. After this time at the 30 months follow-up, visual acuity and fundus were stable without the recurrence of choroidal neovascularization. CONCLUSIONS: Optic nerve drusen should be taken into account and carefully observed as a possible cause of peripapillary choroidal neovascularization in children. Ranibizumab can be a successful off-label treatment in children suffering from choroidal neovascularization associated with optic nerve drusen.
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Anticorpos Monoclonais Humanizados/administração & dosagem , Neovascularização de Coroide/tratamento farmacológico , Drusas do Disco Óptico/tratamento farmacológico , Adolescente , Neovascularização de Coroide/complicações , Feminino , Humanos , Injeções Intravítreas , Uso Off-Label , Drusas do Disco Óptico/complicações , Drusas do Disco Óptico/diagnóstico , Ranibizumab , Resultado do TratamentoRESUMO
Retinal pigment epithelium hamartomas are rare, benign tumors, usually with no growth potential. The case of hamartoma observed at the Ocular Oncology Service, Department of Ophthalmology, University of Medical Sciences in Poznan is presented. In 2008 a 30-year-old woman presented with an asymptomatic choroidal pigmented lesion. Fundus evaluation revealed a lesion typical of retinal pigment epithelium hamartoma. The optical coherence tomography, fluorescein angiography and indocyanine green angiography results confirmed the diagnosis of retinal pigment epithelium hamartoma. No lesion growth was documented throughout the follow-up period of 4 years. Differential diagnosis between congenital retinal pigment epithelium hypertrophy (congenital hypertrophy of the retinal pigment epithelium) or uveal melanoma was included in the report. retinal pigment epithelium hamartoma, fluorescein angiography, optical coherence tomography.
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Hamartoma/congênito , Hamartoma/patologia , Epitélio Pigmentado Ocular/patologia , Neoplasias da Retina/congênito , Neoplasias da Retina/patologia , Adulto , Diagnóstico Diferencial , Feminino , Seguimentos , Hamartoma/diagnóstico por imagem , Humanos , Melanoma/patologia , Polônia , Radiografia , Neoplasias da Retina/diagnóstico por imagem , Úvea/diagnóstico por imagem , Úvea/patologia , Neoplasias Uveais/patologiaRESUMO
Anti-vascular endothelial growth factor (VEGF) drugs are widely used in modern ophthalmology, especially in treating macular disorders like age-related macular degeneration or diabetic macular edema. Protocols for such treatments include repeated administration of intravitreal injections, with the volume of drug injected into the vitreous chamber seemingly high enough to cause an increase in intraocular pressure. Hence, questions might arise if such therapeutic approaches are safe for ocular tissue. Moreover, anti-VEGF compounds may theoretically harm the retinal nerve fibers due to the inhibition of VEGF and its neuroprotective effects. Thus, this manuscript aims to review the literature regarding studies evaluating the retinal nerve fiber layer (RNFL) in eyes receiving anti-VEGF treatment due to age-related macular degeneration. The RNFL was chosen as a subject of this review, as it is the innermost retinal layer exposed to the direct action of intravitreally administered drugs. The results of the available studies remain inconclusive. Most researchers seem to confirm the safety of the anti-VEGF treatment in wet age-related macular degeneration, at least regarding the retinal nerve fiber layer. However, some authors noticed that the influence of anti-VEGFs on RNFL could become apparent after more than thirty injections. Nonetheless, the authors of all studies agree that further, long-term observations are needed to help clinicians understand the effect of anti-VEGF treatment on the dynamics of changes in the thickness of retinal nerve fibers in patients with the wet form of age-related macular degeneration.
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Retinopatia Diabética , Edema Macular , Degeneração Macular Exsudativa , Humanos , Inibidores da Angiogênese/efeitos adversos , Retinopatia Diabética/tratamento farmacológico , Edema Macular/tratamento farmacológico , Fibras Nervosas , Ranibizumab/farmacologia , Ranibizumab/uso terapêutico , Receptores de Fatores de Crescimento do Endotélio Vascular/uso terapêutico , Proteínas Recombinantes de Fusão/farmacologia , Proteínas Recombinantes de Fusão/uso terapêutico , Estudos Retrospectivos , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Degeneração Macular Exsudativa/tratamento farmacológicoRESUMO
Optical coherence tomography (OCT) is a non-invasive, easily accessible imaging technique that enables diagnosing several retinal diseases at various stages of development. This review discusses early OCT findings as non-invasive imaging biomarkers for predicting the future development of selected retinal diseases, with emphasis on age-related macular degeneration, macular telangiectasia, and drug-induced maculopathies. Practitioners, by being able to predict the development of many conditions and start treatment at the earliest stage, may thus achieve better treatment outcomes.
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IntroductionCarotid arthrosclerosis can be a cause of visual impairment. It has been observed that carotid endarterectomy has a positive effect on ophthalmic parameters. The aim of this study was to evaluate the impact of endarterectomy on the optic nerve function.Materials and methods54 asymptomatic patients (19 women and 35 men - 108 eyes) with unilateral carotid stenosis >70% of internal carotid artery, were recruited to the study. All of them were qualified for the endarterectomy procedure. The whole study group underwent Doppler ultrasonography of internal carotid arteries and ophthalmic examination before the surgery, with 22 of them (11 women and 11 men) were examined after the endarterectomy. The ophthalmic examination included; distant best-corrected visual acuity, measurement of the intraocular pressure, electrophysiology (pattern visual evoked potentials), perimetry, and optical coherent tomography (the retinal nerve fiber layer thickness).DiscussionCarotid arteries supply brain and face with blood. Extensive research has observed a concomitant improvement in eyesight after enduring carotid endarterectomy in patients with artery stenosis. This effect was associated with a better blood flow in the ophthalmic artery and its branches, the central retinal artery and the ciliary artery; the major blood supply of the eye.ResultsThe present study proved that carotid endarterectomy has a positive impact on the function of the optic nerve. The visual field parameters and amplitude of pattern visual evoked potentials significantly improved. Preoperative and postoperative values of intraocular pressure and the retinal nerve fiber layer thickness remained stable.